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Gene: Smpd1 MGI:98325

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sphingomyelin phosphodiesterase 1, acid lysosomal
Synonyms:
Zn-SMase,  A-SMase,  acid sphingomyelinase,  ASM,  aSMase

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Smpd1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Smpd1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Niemann-Pick Disease, Type B
Dyspnea, Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hypertriglyceridemia, He... OMIM:607616
Niemann-Pick Disease, Type A
Spasticity, Sea-blue histiocytosis, Ascites, Elevated circulating aspartate aminotransferase conc... OMIM:257200
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Abnormal cerebellum mor... ORPHA:77293

The table below shows human diseases predicted to be associated to Smpd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Splenomegaly, Ataxia ORPHA:2274
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Hepatosplenomegaly, Ataxia OMIM:242520
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Cerebral atrophy, Reduced sperm ... ORPHA:320391
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Recurrent... OMIM:301101
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dy... OMIM:607136
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... ORPHA:101010
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Ankle clonus, Babin... OMIM:611252
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... OMIM:617018
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypop... OMIM:615768
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:171622
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired dista... OMIM:619742
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy OMIM:605388
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Spasticity, Impaired pain sensation... OMIM:616719
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo... ORPHA:98762
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Depression, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria,... OMIM:604326
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central nervous syst... OMIM:143100
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech ORPHA:98766
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyr... OMIM:615924
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Difficulty walking, Cerebellar vermis atrophy, Limb ataxia, Truncal ataxia, Brain atrophy ORPHA:363432
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Depression, Cerebellar atrophy, Gait ataxia, Myoclonus, Tremor, Abnorm... OMIM:615362
Developmental And Epileptic Encephalopathy 40
Cerebral cortical atrophy, Spasticity, Small for gestational age, Myoclonus, Lethargy, Spastic te... OMIM:617065
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebral... OMIM:618973
Homocystinuria Without Methylmalonic Aciduria
Cerebral cortical atrophy, Lethargy, Failure to thrive, Ataxia ORPHA:622
Gaucher Disease Type 2
Spasticity, Abnormal pattern of respiration, Recurrent respiratory infections, Respiratory distre... ORPHA:77260
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dysto... OMIM:614860
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617769
Spinocerebellar Ataxia 31
Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a... OMIM:618369
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617133
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Cerebral atrophy, Hypoplasia of the brainstem, Polymicrogyria, Hypertonia, Pa... OMIM:618730
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Global brain atrophy, Cerebellar atrophy, Hypoplasia of the po... OMIM:618276
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Spasticity, Cerebellar atrophy, Cerebral atrophy, Dystonia, Gait disturbance, Spastic tetraparesis OMIM:620515
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia OMIM:611694
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Hyperlipidemia, Distal sensory impairment, Axonal degeneration, Gait... OMIM:604484
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Ataxia OMIM:213000
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Shuffling gait, Global brain atrophy, Somatic sensory dysfunction, Rigidity, Parkinso... OMIM:221820
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Hypoplasia of the br... OMIM:224050
Gordon Holmes Syndrome
Cerebellar atrophy, Cerebral atrophy, Chorea, Primary amenorrhea, Hypogonadotropic hypogonadism, ... OMIM:212840
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Para... OMIM:606777
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, ... OMIM:600143
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Ab... OMIM:607317
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... ORPHA:363710
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Dystonia 31
Arm dystonia, Depression, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dysto... OMIM:619565
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Ventriculomegaly, Cerebellar hypoplasia, Agenesis of corpus callosum ORPHA:171703
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Rft1-Cdg
Hepatomegaly, Cerebral cortical atrophy, Cerebral atrophy, Ataxia ORPHA:244310
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Generalized dystonia, Inability to walk, Cerebellar vermis atrophy, Lower lim... OMIM:619389
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin... ORPHA:521406
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Depression, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxi... OMIM:615889
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Failure to thrive, Tetraparesis, Cryptorchidism, Hypogonadotropic hypogonadis... OMIM:619310
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, My... OMIM:256731
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Nescav Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Cerebellar vermis atrophy, A... OMIM:614255
Pontocerebellar Hypoplasia, Type 6
Cerebellar vermis hypoplasia, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Failure ... OMIM:611523
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Incoordination, Ak... OMIM:248900
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebral cortical atrophy, Depression, Cerebellar atrophy, Difficulty walking, Amenorrhea, Ataxia... OMIM:619425
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Microlissencephaly
Cerebral cortical atrophy, Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Hyper... ORPHA:1083
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Spasticity, Cerebellar vermis hypoplasia, Cerebellar atrophy, Parie... ORPHA:98
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,... OMIM:611302
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic paraplegia, Spasticity, Spastic paraparesis, Impaired vibratory sensation, Cerebral corti... OMIM:238970
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe... OMIM:615957
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Ventriculomegaly, Cerebellar atrophy, Incoordin... ORPHA:157941
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Juvenile Huntington Disease
Broad-based gait, Depression, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclonus, G... ORPHA:248111
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Hypoalbuminemia, Global brain atrophy, Cerebellar vermis atrophy, Impaired vi... ORPHA:94124
Spinocerebellar Ataxia 48
Depression, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsoni... OMIM:618093
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Abnormal erythrocyte morphology, Myoclonus, Hemiparesis, Paralysis, Apraxia, ... ORPHA:71277
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Loss of ambulation, Clonus, Ataxia, Unsteady gait, Tip-toe gait,... OMIM:614877
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Cerebral atrophy, Lower limb spasticity, Hypertonia, Ataxia, Upper limb spast... OMIM:613925
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Atrophy/De... OMIM:616230
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi... ORPHA:204
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebral cortical atrophy, Falls, Resting tremo... OMIM:617225
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Cerebral cortical atrophy, Failure to thrive, Cerebral atrophy, Hypomethionine... OMIM:236270
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spinocerebellar Ataxia, Autosomal Recessive 12
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig... OMIM:614322
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c... OMIM:610185
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, ... OMIM:300423
Developmental And Epileptic Encephalopathy 92
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Lethargy, Ataxia, Dystonia OMIM:617829
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr... OMIM:617145
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Hand tremor, Cerebral atrop... OMIM:614409
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypoplasia of the pons, Myoclonus, C... OMIM:225753
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Cerebellar atrophy, Abnormality of neutrophils, Recurrent respirat... ORPHA:2585
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Trunc... OMIM:601238
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Lower limb spasticity, Upper limb spasti... OMIM:618468
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnor... ORPHA:275872
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Failure to thrive, Recurrent meningococcal disease, Disseminated... OMIM:614372
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Abnormal cortical gyration, Fasciculations, Abnormal substantia nigra ... ORPHA:98756
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Myoclonus, Splenomegaly, Hepatomegaly, Dystonia ORPHA:139406
Combined Saposin Deficiency
Fasciculations, Myoclonus, Splenomegaly, Hyperkinetic movements, Babinski sign, Neuronal loss in ... OMIM:611721
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Periventricular nodular heterotopia, Spasticity OMIM:618185
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616187
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Spasticity, Clonus, Tetraplegia, Neuronal loss in central nervous syst... OMIM:614959
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Cogwheel rigidity, Distal sensory impairment... ORPHA:497764
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Classic Galactosemia
Depression, Sepsis, Incoordination, Speech apraxia, Postural tremor, Gait imbalance, Action tremo... ORPHA:79239
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Cerebral atrophy, Lethargy, Tetraplegia, Hypertonia OMIM:274270
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Tremor, Ataxia OMIM:619099
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Spasticity, Global brain atrophy, Cerebellar at... OMIM:615838
Congenital Disorder Of Glycosylation, Type Iiz
Diffuse cerebellar atrophy, Clonus, Appendicular spasticity OMIM:620201
Rapid-Onset Dystonia-Parkinsonism
Depression, Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniof... ORPHA:71517
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Impaired pain sensation, Gait ataxia, Distal sensory impairment, Abno... ORPHA:101111
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Atroph... OMIM:617862
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Hypoalbuminemia, Cerebellar atrophy, Cerebral atrophy, Dist... OMIM:607250
Spinocerebellar Ataxia 14
Depression, Cerebellar atrophy, Gait ataxia, Dysmetria, Focal dystonia, Impaired vibration sensat... OMIM:605361
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... OMIM:613728
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc... OMIM:109150
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Cerebellar atrophy, Cerebral atrophy OMIM:611726
Congenital Neuronal Ceroid Lipofuscinosis
Spasticity, Ventriculomegaly, Cerebellar atrophy, Abnormal astrocyte morphology, Apnea, Agenesis ... ORPHA:168486
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:240103
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Cerebellar atrophy, Ataxia OMIM:613402
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Myoclonus, Gait ataxia, Limb dystonia, ... ORPHA:101150
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Dystonia, Athetosis OMIM:300857
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticit... OMIM:617916
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Progressive spastic paraparesis, Spastic ataxia, Spastic tetraparesis, Iron a... ORPHA:496756
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Spastic tetraparesis, Cerebellar atrophy, Brain atrophy OMIM:618741
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia OMIM:614706
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Cerebral atrophy, Positive Romberg sign, Dysmetria, Loss of ambul... OMIM:618088
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Elevated circulati... OMIM:618387
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Cerebral atrophy, Episodic ataxia, Myoclonus, Tremor, Lethargy, Hypera... OMIM:312170
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Tremor, Gait disturbance, Normal pressure hydrocephalus, Kinetic tremor OMIM:611808
Dystonia 22, Juvenile-Onset
Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ... OMIM:620453
Niemann-Pick Disease, Type B
Dyspnea, Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hypertriglyceridemia, He... OMIM:607616
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Ga... OMIM:619862
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment OMIM:610003
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Neutropenia, Recurrent bacterial infections, Recurrent... OMIM:616022
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morpho... OMIM:105550
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Dystonia,... ORPHA:98759
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal motor funct... OMIM:604218
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N... OMIM:617672
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ventricle, Myoclonus, Ga... ORPHA:251347
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Respiratory distress, Limb dystonia, Glio... OMIM:604377
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Depression, Postural tremor, Ga... OMIM:300623
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Spasticity, Somatic sensory dysfunction, Acute hepatic failure, Cerebellar verm... ORPHA:466794
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... OMIM:607565
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti... OMIM:610357
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment,... OMIM:208920
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia, Ventriculomegaly, Lateral ventricle dilatation, Cerebral atrophy,... ORPHA:79243
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Cerebellar atrophy, Impaired vibration sensati... OMIM:159550
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal pleura morphology, Pleural effusion, Lymphadenopathy, Hep... ORPHA:50251
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Chorea, Appendicular spasticity,... OMIM:613811
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Delayed menarche, T... ORPHA:330050
Morbid Obesity And Spermatogenic Failure
Obesity, Azoospermia, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholest... OMIM:615703
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy, Failure to thrive OMIM:615596
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Spastic Paraplegia 50, Autosomal Recessive
Ventriculomegaly, Cerebellar atrophy, Cerebral palsy, Babinski sign, Limb hypertonia, Gliosis, At... OMIM:612936
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Chorea, Hemiplegia/hemiparesis, Anemia, Pancreatitis, Neutropenia, Thromboc... ORPHA:289916
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Splenomegaly, Tremor, Reticulocytosis, Ataxia, Dystonia, Hemolytic anemia, Chor... OMIM:612126
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Dysmetria, Unsteady gait, Intent... OMIM:615386
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... OMIM:614831
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity,... OMIM:616981
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Depression, Cerebellar atrophy, Tremor, Babinski... OMIM:616795
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Failure to thrive, Cerebral atrophy, Elevated circulating propionylcarnitine ... OMIM:614857
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Cerebellar atrophy, Gait ataxia, Slurred speech OMIM:619323
Mitochondrial Complex I Deficiency, Nuclear Type 3
Abnormality of extrapyramidal motor function, Lethargy, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:618224
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebellar atrophy, Recurrent upper respiratory tract infections, Hemiplegia, Myoclonus, ... ORPHA:352596
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Babinski sign, Progressive g... ORPHA:1175
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Abnormal upper motor neuron morpholog... OMIM:221770
Multiple Mitochondrial Dysfunctions Syndrome 6
Spasticity, Cerebellar atrophy, Failure to thrive, Inability to walk, Dysmetria, Atrophy/Degenera... OMIM:617954
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Spastic Ataxia 9, Autosomal Recessive
Spasticity, Cerebellar vermis atrophy, Dysmetria, Hoffmann sign, Babinski sign, Abnormal pyramida... OMIM:618438
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Myoclonus, Lethargy, Ataxia, Increased serum pyruvate, Brain atrophy OMIM:618225
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, Gait ataxia,... ORPHA:512260
Bronchopulmonary Dysplasia
Atelectasis, Respiratory distress, Emphysema, Diaphragmatic paralysis, Central apnea, Dyspnea, Ab... ORPHA:70589
Aicardi-Goutieres Syndrome 4
Spasticity, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Ventricu... OMIM:610333
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Sandhoff Disease
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Ataxia ORPHA:796
Spinocerebellar Ataxia 32
Cerebellar atrophy, Azoospermia, Ataxia, Testicular atrophy, Infertility OMIM:613909
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Small for gestational age, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb dystonia, El... OMIM:619054
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C... OMIM:117360
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia ORPHA:276183
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Unsteady gait, Tr... ORPHA:314978
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dyspnea, Dystonia, ... ORPHA:98810
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Trun... OMIM:607346
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C... ORPHA:397946
Autosomal Recessive Spastic Paraplegia Type 74
Difficulty walking, Babinski sign, Cerebellar atrophy, Progressive spastic paraplegia ORPHA:468661
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... OMIM:618090
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Failure to thrive, Babinski sign, Lethargy, Ataxia, Dystonia, Brain atrophy OMIM:618226
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Lymphopenia, Recurrent viral upper respiratory t... OMIM:619773
Leukodystrophy, Hypomyelinating, 18
Spasticity, Cerebellar atrophy, Failure to thrive, Dysmetria, Babinski sign, Atrophy/Degeneration... OMIM:618404
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho... OMIM:613490
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Depression, Cerebellar atrophy, Abnormal posturing, Generalized dystonia, Inabilit... OMIM:128100
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Dystonia, Spastic tetraparesis, Progressive cerebellar ataxia ORPHA:67046
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatome... ORPHA:79312
Griscelli Syndrome, Type 2
Spasticity, Hemophagocytosis, Reduced delayed hypersensitivity, Hepatosplenomegaly, Recurrent bac... OMIM:607624
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Cerebellar atrophy, Difficulty walking, Neurodegeneration, Dysmetria, Ankle c... OMIM:612319
Combined Oxidative Phosphorylation Deficiency 14
Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Inc... OMIM:614946
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Loss of ambulation, Babinsk... OMIM:271245
Leigh Syndrome, Nuclear
Spasticity, Abnormal pattern of respiration, Hepatocellular necrosis, Gliosis, Ataxia, Dystonia OMIM:256000
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor... OMIM:617435
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Gait disturbance, Failure to thrive ORPHA:79283
Cach Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Gonadal dysgenesis, Cerebellar vermis atrophy, ... ORPHA:135
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circu... OMIM:613501
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella... ORPHA:423275
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Leukodystrophy, Hypomyelinating, 14
Dystonia, Spasticity, Cerebellar atrophy, Cerebral atrophy OMIM:617899
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Dystonia, Parkinsoni... ORPHA:329284
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:610951
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Failure to thrive, Myoclonus, Dysmetria, Lethargy, Head titubation, Ataxia, Truncal ataxia, Dystonia OMIM:250620
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Loss of Purkinje cells in the cerebellar vermis, Cerebellar atroph... ORPHA:98755
Spinocerebellar Ataxia Type 27
Depression, Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait atax... ORPHA:98764
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Spastic paraplegia, Spasticity, Ventriculomegaly, Respiratory distress, Inability to walk, Spasti... OMIM:617977
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Spasticity, Cerebellar atrophy, Cerebral atrophy, Babinski sign, Waddling gait OMIM:619090
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Gait ataxia, Ataxia OMIM:615705
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Agenesis of corpus callosum, Cerebellar hemisph... OMIM:615095
Spinocerebellar Ataxia Type 8
Ataxia, Impaired vibratory sensation, Spasticity, Depression, Cerebellar atrophy, Hypoplasia of t... ORPHA:98760
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Cerebral cortical atrophy, Falls, Resting tremor, R... ORPHA:306692
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Impaired vibratory sensation, Cerebellar atrophy, Obesity, Oculomotor apraxia, A... OMIM:616267
Boucher-Neuhauser Syndrome
Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Hypogonadotr... OMIM:215470
Hemimegalencephaly
Ventriculomegaly, Myoclonus, Hemiparesis, Gliosis, Abnormal neuron morphology ORPHA:99802
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Hypertonia OMIM:254120
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem... ORPHA:98763
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Increased cerebral lipofuscin, Hypocholesterolemia, Hypersplenism, Myoclonus, Splenomegaly, Anemi... OMIM:610539
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Cerebellar atrophy, Depression, Chorea, Action tremor, Tremor, Hyperkinetic... OMIM:619738
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Pappenheimer bodies, Positive Romberg sign, Cryptorchidism, Weight loss, Cl... OMIM:301310
Congenital Disorder Of Glycosylation, Type In
Spasticity, Cerebral atrophy, Myoclonus, Ataxia, Hepatomegaly, Recurrent lower respiratory tract ... OMIM:612015
Spinocerebellar Ataxia 50
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Head tremor, Myoclonus, Action tremor, Pos... OMIM:620158
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Myoclonus, Cerebellar hypoplasia, Atrophy/Degeneration affecting the brainste... OMIM:619971
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Paralysis, Lethargy, Distal sensory impairment OMIM:613710
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Perrault Syndrome 1
Cerebellar atrophy, Gonadal dysgenesis, Gait ataxia, Primary amenorrhea, Ataxia, Intention tremor... OMIM:233400
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Lethargy, Hypertonia, Dystonia ORPHA:26792
Spastic Paraplegia 79B, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Tetrapare... OMIM:615491
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Depression, Cerebellar atrophy, Resting tremor, Cerebellar vermis atr... ORPHA:458803
Pontocerebellar Hypoplasia, Type 1E
Cerebellar hypoplasia, Myoclonus, Hypoplasia of the pons, Cerebellar atrophy OMIM:619303
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, At... OMIM:619028
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Spasticity, Ventriculomegaly, Abnormal cerebellum morphology, Tremo... OMIM:300957
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Folinic Acid-Responsive Seizures
Broad-based gait, Frontotemporal cerebral atrophy, Cerebellar atrophy, Respiratory distress, Diff... ORPHA:79097
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Cerebellar atrophy, Abnormality of extrapyramidal motor function, Abnormal ... OMIM:236792
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Lethargy, Abnormal pyramidal sign, Ataxia, Brain atrophy OMIM:618228
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis, Lower limb spasticity, Hepatic steatosis OMIM:615119
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Elevated circulating creatine kinase con... OMIM:619405
Isolated Atp Synthase Deficiency
Cerebral cortical atrophy, Spastic paraplegia, Cerebellar atrophy, Hypogonadism, Hyperammonemia, ... ORPHA:254913
Neuroectodermal Melanolysosomal Disease
Cerebral cortical atrophy, Spasticity, Tremor, Rigidity, Cerebellar hypoplasia, Cerebral cortical... ORPHA:33445
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm... OMIM:602390
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Tip-toe gait, Respiratory distress, Inability to walk, Babinski sig... ORPHA:2596
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hemiparesis, Respiratory tract... ORPHA:444463
Basal Ganglia Calcification, Idiopathic, 1
Cerebellar dentate nucleus calcification, Depression, Chorea, Limb dysmetria, Tremor, Rigidity, D... OMIM:213600
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Spastic Paraparesis And Deafness
Hypogonadism, Spastic paraparesis, Tremor OMIM:312910
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li... OMIM:183090
Amyotrophic Lateral Sclerosis 3
Cerebellar atrophy OMIM:606640
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Chorea, Bradykinesia, Ataxia OMIM:618683
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi... OMIM:609161
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Gait imbalance, Myoclonus, Ataxia, Unsteady gait, Frequent falls, Choreoathet... OMIM:301020
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Sandhoff Disease, Juvenile Form
Acroparesthesia, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Incoordination, Failure to... ORPHA:309162
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom... ORPHA:208513
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebral cortical atrophy, Hepatic failure, Spasticity, Cerebellar atrophy, Micronodular cirrhosi... OMIM:301072
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Postural tremor, Dysmetria, Tremor, Lo... OMIM:607694
Methylmalonic Acidemia With Homocystinuria
Lethargy, Gait disturbance, Failure to thrive ORPHA:26
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Truncal a... ORPHA:352403
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski sign... ORPHA:314632
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Huntington Disease-Like 2
Cerebral cortical atrophy, Depression, Chorea, Action tremor, Rigidity, Dystonia, Apathy, Weight ... OMIM:606438
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria OMIM:617770
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Early Myoclonic Encephalopathy
Lethargy, Myoclonus, Recurrent respiratory infections ORPHA:1935
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Recurrent sinusitis, Reduced progressive sperm motility, Short spe... OMIM:620438
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Difficulty walking, Positive Rom... OMIM:616479
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Spastic Paraplegia 7, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Cerebellar atrophy, Upper limb hypertonia, Lower l... OMIM:607259
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Failure to thrive, Tetraparesis, An... OMIM:620546
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypoplasia of the pons, Difficulty walking, Speech apraxia, Head tremor, Unsteady gait, Parietal ... ORPHA:412057
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Immunodeficiency 61
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased... OMIM:300310
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Respiratory distress, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to ... ORPHA:240085
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Developmental And Epileptic Encephalopathy 71
Cheyne-Stokes respiration, Gliosis OMIM:618328
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, Cerebellar atrophy, Limb ataxia, Limb dystonia, Abnormal pyramidal sign, Head titubat... OMIM:617560
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Impaired... ORPHA:137898
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Spasticity, Failure to thrive, Cerebral atrophy, Hypomethioninemia, Lethargy, Gait disturbance, M... OMIM:250940
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Spinocerebellar Ataxia 49
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ... OMIM:619806
4H Leukodystrophy
Cerebellar atrophy, Tremor, Dysmetria, Abnormality of extrapyramidal motor function, Progressive ... ORPHA:289494
Hereditary Methemoglobinemia
Spasticity, Temporal cortical atrophy, Global brain atrophy, Cerebellar atrophy, Small for gestat... ORPHA:621
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria, Cerebellar hyp... OMIM:617810
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Cutaneous abscess, Recurrent... OMIM:613953
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, ... ORPHA:93952
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Atelectasis, Respiratory distress, Agenesis of corpus callosum, Recurrent respiratory infections,... OMIM:619466
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-toe gait, Cerebral atrop... OMIM:617013
Behr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance... OMIM:210000
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Gm1-Gangliosidosis, Type Iii
Ventriculomegaly, Myoclonus, Splenomegaly, Diffuse cerebral atrophy, Ataxia, Hepatomegaly, Dyston... OMIM:230650
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Rigidity, Babinski sign, Clonus, Limb hypertonia, Hypertonia, Myoclonic spasms, Neuronal l... OMIM:614498
Spastic Paraplegia 75, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Dysmetria, Loss of ambulation, Babinski sign... OMIM:616680
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Abnormal morpholog... OMIM:193670
Spastic Paraplegia 85, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Impaired temperature sensat... OMIM:619686
Autosomal Recessive Progressive External Ophthalmoplegia
Shuffling gait, Depression, Cerebellar atrophy, Cerebral atrophy, Paresthesia, Cogwheel rigidity,... ORPHA:254886
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Oculogyric crisis, Cerebellar atrophy, Cerebral atrophy, Polymicrogyria, Inability to... OMIM:614254
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Meningitis, Lethargy, Herpes simplex encephalitis, Hemiparesis OMIM:617900
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Rigidity, Loss of ambulation, Thrombocytopenia, Hepatomegaly, Dystonia, Hem... OMIM:615010
Spinocerebellar Ataxia Type 10
Depression, Cerebellar atrophy, Gait imbalance, Gait ataxia, Intention tremor, Dysmetria, Babinsk... ORPHA:98761
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... ORPHA:464440
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spasticity, Cerebellar atrophy, Spastic tetraplegia, Ataxia OMIM:617207
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Impaired T cell function, Recurrent candida infections, Hypogonadism, Decrease... OMIM:201100
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ... ORPHA:139485
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Xanthelasma, Increased LDL cholesterol concentration, Positive Romberg sign, ... OMIM:277460
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Spinocerebellar Ataxia 28
Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Babinski s... OMIM:610246
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Spasticity, Cerebellar atrophy, Failure to thrive, Inability to walk, Hyperammonemia, Abnormality... OMIM:614739
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Recurrent respiratory infections, Cerebellar atrophy, Appendicular spasticity OMIM:618324
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Pulmonary fibros... ORPHA:457240
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Somatic sensory dysfunction, Cerebellar vermis atrophy, Head tremor, Gait imbala... ORPHA:64753
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Hyperkinetic mov... OMIM:617493
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Depression, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Park... ORPHA:216873
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Tongue fasciculations, Involuntary movements ORPHA:238329
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Dysplastic corpus callosum, Ataxia, Dystonia, Spastic tetr... ORPHA:599373
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Infantile Cerebellar-Retinal Degeneration
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Decreased body weight, Ataxia, ... OMIM:614559
Glycine Encephalopathy 1
Hyperglycinemia, Lethargy, Myoclonus OMIM:605899
Leukoencephalopathy With Vanishing White Matter 1
Spasticity, Lethargy, Gait disturbance, Primary amenorrhea, Premature ovarian insufficiency, Unst... OMIM:603896
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Tay-Sachs Disease
Aspiration pneumonia, Incoordination, Poor fine motor coordination, Global brain atrophy, Inabili... ORPHA:845
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Cerebral atrophy, Tetraparesis, Gait ataxia, Hepatic steatos... ORPHA:363400
Developmental And Epileptic Encephalopathy 44
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Dystonia, Athetosis OMIM:617132
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga... OMIM:607483
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Dysmetria, Recurrent respiratory infections ORPHA:320385
Congenital Disorder Of Glycosylation, Type Ie
Elevated circulating hepatic transaminase concentration, Respiratory distress, Splenomegaly, Trem... OMIM:608799
Immunodeficiency 104
Pneumonia, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Failure to thrive, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Hyp... OMIM:618356
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ventriculomegaly, Cerebral atrophy, Generalized dystonia, Neurodegeneration, Chorea, Pancytopenia... OMIM:618321
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Progressive spastic paraplegia, Diffic... ORPHA:280763
Spinocerebellar Ataxia 21
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abnor... OMIM:607454
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory... OMIM:302800
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Abnormal pyramidal sign, Tetraplegia, Dy... OMIM:300475
Immunodeficiency 83, Susceptibility To Viral Infections
Meningitis, Lethargy, Herpes simplex encephalitis, Hemiparesis OMIM:613002
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... OMIM:605258
Spinocerebellar Ataxia 10
Depression, Cerebellar atrophy, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Di... OMIM:603516
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Dyspnea, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, He... OMIM:612387
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Recurrent viral infections, Tetraparesis, Lymphopenia, Ataxia, Recurrent lower resp... OMIM:613179
Spastic Paraplegia Type 7
Cerebral cortical atrophy, Cerebellar atrophy, Somatic sensory dysfunction, Impaired vibration se... ORPHA:99013
Severe Canavan Disease
Spasticity, Inability to walk, Babinski sign, Lethargy, Decerebrate rigidity ORPHA:314911
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Lateral ventricle dilatation, Cerebral palsy, Cerebral atrophy, Myoclonus, Limb dysto... OMIM:619847
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, Gait ataxia, Cryptor... OMIM:618917
Cog7-Cdg
Cerebellar atrophy, Failure to thrive, Hepatosplenomegaly, Brain atrophy, Elevated circulating cr... ORPHA:79333
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Gait atax... OMIM:600116
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Cerebral cortical he... ORPHA:306669
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progress... ORPHA:101112
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Gliosis, Neuron... OMIM:256600
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Diffuse cerebellar atrophy, Broad-based gait, Difficulty walking, Progressive truncal ataxia, Dys... ORPHA:363429
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Head titubation, Abnormal pyramidal sig... ORPHA:527497
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Cerebellar atrophy, Fasciculations, Limb ataxia, Dysmetria, Ankle ... ORPHA:284289
Mepan Syndrome
Spasticity, Hemidystonia, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Chorea, Myoclo... ORPHA:508093
Citrullinemia Type I
Spasticity, Failure to thrive, Hyperammonemia, Ankle clonus, Lethargy, Torticollis, Ataxia, Eleva... ORPHA:247525
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Elevated haptoglobi... OMIM:620632
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:620174
Joubert Syndrome 33
Oculomotor apraxia, Apnea, Splenomegaly, Ataxia OMIM:617767
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Ventriculomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Limb dystonia, Tremor, Cerebellar hypoplasia, Ataxia OMIM:620270
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Adult Krabbe Disease
Abnormal midbrain morphology, Spasticity, Broad-based gait, Acroparesthesia, Somatic sensory dysf... ORPHA:206448
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Invasive fungal infection, F... ORPHA:98813
Gerstmann-Straussler Disease
Spasticity, Depression, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity... OMIM:137440
Sporadic Infantile Bilateral Striatal Necrosis
Recurrent upper respiratory tract infections, Resting tremor, Progressive extrapyramidal muscular... ORPHA:225147
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Cog4-Cdg
Recurrent upper respiratory tract infections, Frontotemporal cerebral atrophy, Failure to thrive ... ORPHA:263501
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Spinocerebellar Ataxia 34
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax... OMIM:133190
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Decreased body weight, Babinski sign, Atrophy ... ORPHA:445062
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Hypoplasia of the brainstem, Myoclonus, Tremor, Dystonia OMIM:619651
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Frontotemporal cerebral... OMIM:613489
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Cerebellar vermis atrophy, Chorea, Gait ataxia, Dysmetria, Ataxia OMIM:618501
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Depression, Elevated circulating phytanic acid concentration, Increased phytanic acid... OMIM:614307
Leukodystrophy, Hypomyelinating, 15
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Loss of ambulation, Abnormal... OMIM:617951
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Lethargy, Limb hypertonia, Hyperphenylalaninemia, Dysto... OMIM:233910
Mannosidosis, Alpha B, Lysosomal
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Splenomegaly... OMIM:248500
Pontocerebellar Hypoplasia, Type 3
Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Hypoplasia of the brain... OMIM:608027
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Spastic ataxia, Oculom... OMIM:614487
Multiple Symmetric Lipomatosis
Hepatomegaly, Paresthesia, Gait disturbance ORPHA:2398
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia OMIM:612016
Primary Dystonia, Dyt4 Type
Upper limb postural tremor, Blepharospasm, Involuntary movements, Generalized dystonia, Laryngeal... ORPHA:98805
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Depression, Cerebellar atrophy, Secondary amenorrhea, Mildly elevated creatine kinase, Limb ataxi... OMIM:258450
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ... ORPHA:276
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Increased serum pyruvate, Ataxia OMIM:246900
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Peho-Like Syndrome
Cerebellar atrophy, Polymicrogyria, Myoclonus, Pachygyria, Lissencephaly OMIM:617507
Congenital Disorder Of Glycosylation, Type Iin
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Cerebellar vermis atrophy, Recurrent inf... OMIM:616721
Spastic Ataxia 3, Autosomal Recessive
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia... OMIM:611390
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
2,4-Dienoyl-Coa Reductase Deficiency
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Incoordination, Elevated cir... OMIM:616034
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Global brain atrophy, Depression, Failure to thrive, Genera... OMIM:312080
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Degeneration of the ... OMIM:600363
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Elevated circulating phytanic acid concentration, Tremor, Dysmetria, Oculomot... OMIM:614867
Pontocerebellar Hypoplasia, Type 2A
Cerebral cortical atrophy, Hypoplasia of the pons, Chorea, Cerebellar hypoplasia, Opisthotonus, G... OMIM:277470
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Leukopenia, Hyperammonemia, Macrocytic anemia, Lethargy, Paraparesis, Thrombocytope... ORPHA:27
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Pseudobulbar paralysis, Abnormal cerebellum morphology, Babinski sign, Corpus callosu... OMIM:169500
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetr... OMIM:614381
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Spasticity, Decreased circulating c... ORPHA:2394
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Cerebellar hypoplasia, Dystonic gait, Lower limb spasticit... ORPHA:280210
Congenital Pulmonary Lymphangiectasia
Ascites, Respiratory distress, Pleural effusion, Splenomegaly, Hepatomegaly ORPHA:2414
Urocanase Deficiency